Diagnosis and Treatment > Signs and Symptoms > Palpitations

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Ismael Capel Endocrinology Department, Parc Taulí Sabadell University Hospital, Sabadell Barcelona, Spain

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Elisabet Tasa-Vinyals Endocrinology Department, Parc Taulí Sabadell University Hospital, Sabadell Barcelona, Spain

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Albert Cano-Palomares Endocrinology Department, Parc Taulí Sabadell University Hospital, Sabadell Barcelona, Spain

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Irene Bergés-Raso Endocrinology Department, Parc Taulí Sabadell University Hospital, Sabadell Barcelona, Spain

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Lara Albert Endocrinology Department, Parc Taulí Sabadell University Hospital, Sabadell Barcelona, Spain

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Mercedes Rigla Endocrinology Department, Parc Taulí Sabadell University Hospital, Sabadell Barcelona, Spain

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Assumpta Caixàs Endocrinology Department, Parc Taulí Sabadell University Hospital, Sabadell Barcelona, Spain

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Summary

Takotsubo cardiomyopathy (TC) is an atypical, severe but reversible form of acute heart insufficiency. It typically presents with left ventricular failure, transient apical and mid-segments hypokinesis, absence of significant coronary stenosis and new electrographic abnormalities and/or elevation in serum cardiac enzymes. Although TC (‘broken heart syndrome’) has classically been associated with emotional trauma, evidence suggests that other precipitants might exist, including iatrogenic and thyroid-mediated forms. Thyroid disease is a relatively common comorbidity in TC patients. We report a case of TC in a postmenopausal female with no history of emotional trauma or other potential precipitant factors who was diagnosed with amiodarone-induced hyperthyroidism during her hospital stay. Though some case reports of thyroid-related TC exist, we are not aware of any other reported case of TC precipitated by amiodarone-induced hyperthyroidism.

Learning points:

  • TC is a relatively new, rare, transient, severe, but reversible cardiovascular condition that is characterized by an acute left ventricular cardiac failure, which can clinically, analytically and electrocardiographically mimic an acute myocardial infarction.

  • Many precipitant factors have been described in TC, being the most classical and emotional trauma. However, thyroid dysfunction is also a significant condition frequently found in patients with TC.

  • A hypercatecholaminergic state leading to cardiomyocyte damage has been established as the main fact of TC physiopathology. Hyperthyroidism induces an upregulation of β-adrenergic receptors.

  • Both hyperthyroidism and hypothyroidism have been related with TC development. Most reported cases of TC involving thyroid dysfunction correspond to hyperthyroidism due to Graves–Basedow disease, but there are also descriptions with severe hypothyroidism, radioiodine treatment or thyroid surgery.

  • Amiodarone is a class III antiarrhythmic agent widely used, and it is a well-known cause of thyroid dysfunction, which can present either with hypothyroidism or hyperthyroidism, as approximately 40 percent of the amiodarone molecule is composed of iodine.

  • In this case, a type II amiodarone-induced hyperthyroidism was the precipitant factor of a TC in a patient with a pre-existing atrial fibrillation. Given the high prevalence of atrial fibrillation and the wide use of amiodarone, the risk of this iatrogenic effect should be taken into account.

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Julian Choi Departments of Internal Medicine

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Perin Suthakar Neurology, Arrowhead Regional Medical Center, Colton, California, USA

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Farbod Farmand Departments of Internal Medicine

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Summary

We describe the case of a young Hispanic female who presented with thyrotoxicosis with seizures and ischemic stroke. She was diagnosed with a rare vasculopathy – moyamoya syndrome. After starting antithyroid therapy, her neurologic symptoms did not improve. Acute neurosurgical intervention had relieved her symptoms in the immediate post-operative period after re-anastomosis surgery. However, 2 post-operative days later, she was found to be in status epilepticus and in hyperthyroid state. She quickly deteriorated clinically and had expired a few days afterward. This is the second case in literature of a fatality in a patient with moyamoya syndrome and Graves’ disease. However, unlike the other case report, our patient had undergone successful revascularization surgery. We believe her underlying non-euthyroid state had potentiated her clinical deterioration. Case studies have shown positive correlation between uncontrolled hyperthyroidism and stroke-like symptoms in moyamoya syndrome. Mostly all patients with these two disease processes become symptomatic in marked hyperthyroid states. Thus, it may be either fluctuations in baseline thyroid function or thyrotoxicosis that potentiate otherwise asymptomatic moyamoya vasculopathy.

Learning points:

  • Awareness of the association between Graves’ disease and moyamoya syndrome in younger patients presenting with stroke-like symptoms.

  • Obtaining euthyroid states before undergoing revascularization surgery may protect the patient from perioperative mortality and morbidity.

  • Although moyamoya disease is usually thought to be genetically associated, there are reports that thyroid antibodies may play a role in its pathogenesis and have an autoimmune link.

  • Fluctuations in baseline thyroid function for patients with known Graves’ disease may be a potentiating factor in exacerbating moyamoya vasculopathy.

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Elizabeth M Madill Department of Endocrinology and Diabetes, The Alfred Hospital, Melbourne, Victoria, Australia

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Shamil D Cooray Department of Endocrinology and Diabetes, The Alfred Hospital, Melbourne, Victoria, Australia

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Leon A Bach Department of Endocrinology and Diabetes, The Alfred Hospital, Melbourne, Victoria, Australia
Department of Medicine (Alfred), Monash University, Melbourne, Victoria, Australia

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Summary

Thyrotoxicosis is an under-recognised but clinically important complication of parathyroidectomy. We report a case of a 37-year-old man with tertiary hyperparathyroidism who initially developed unexplained anxiety, diaphoresis, tachycardia, tremor and hyperreflexia one day after subtotal parathyroidectomy. Thyroid biochemistry revealed suppressed thyroid stimulating hormone and elevated serum free T4 and free T3 levels. Technetium-99m scintigraphy scan confirmed diffusely decreased radiotracer uptake consistent with thyroiditis. The patient was diagnosed with thyrotoxicosis resulting from palpation thyroiditis. Administration of oral beta-adrenergic antagonists alleviated his symptoms and there was biochemical evidence of resolution fourteen days later. This case illustrates the need to counsel patients about thyroiditis as one of the potential risks of parathyroid surgery. It also emphasises the need for biochemical surveillance in patients with unexplained symptoms in the post-operative period and may help to minimise further invasive investigations for diagnostic clarification.

Learning points

  • Thyroiditis as a complication of parathyroidectomy surgery is uncommon but represents an under-recognised phenomenon.

  • It is thought to occur due to mechanical damage of thyroid follicles by vigorous palpation.

  • Palpation of the thyroid gland may impair the physical integrity of the follicular basement membrane, with consequent development of an inflammatory response.

  • The majority of patients are asymptomatic, however clinically significant thyrotoxicosis occurs in a minority.

  • Patients should be advised of thyroiditis/thyrotoxicosis as a potential complication of the procedure.

  • Testing of thyroid function should be performed if clinically indicated, particularly if adrenergic symptoms occur post-operatively with no other cause identified.

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Arshiya Tabasum Department of Diabetes and Endocrinology, Prince Charles Hospital, Cwm Taf Health Board, Merthyr Tydfil, UK

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Ishrat Khan Department of Diabetes and Endocrinology, Prince Charles Hospital, Cwm Taf Health Board, Merthyr Tydfil, UK

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Peter Taylor Department of Diabetes and Endocrinology, Prince Charles Hospital, Cwm Taf Health Board, Merthyr Tydfil, UK
Thyroid Research Group, Institute of Molecular and Experimental Medicine, Cardiff University School of Medicine, Cardiff, UK

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Gautam Das Department of Diabetes and Endocrinology, Prince Charles Hospital, Cwm Taf Health Board, Merthyr Tydfil, UK

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Onyebuchi E Okosieme Department of Diabetes and Endocrinology, Prince Charles Hospital, Cwm Taf Health Board, Merthyr Tydfil, UK
Thyroid Research Group, Institute of Molecular and Experimental Medicine, Cardiff University School of Medicine, Cardiff, UK

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Summary

TSH receptor antibodies (TRAbs) are the pathological hallmark of Graves’ disease, present in nearly all patients with the disease. Euthyroid Graves’ ophthalmopathy (EGO) is a well-recognized clinical entity, but its occurrence in patients with negative TRAbs is a potential source of diagnostic confusion. A 66-year-old female presented to our endocrinology clinic with right eye pain and diplopia in the absence of thyroid dysfunction. TRAbs were negative, as measured with a highly sensitive third-generation thyrotropin-binding inhibitory immunoglobulin (TBII) ELISA assay. CT and MRI scans of the orbit showed asymmetrical thickening of the inferior rectus muscles but no other inflammatory or malignant orbital pathology. Graves’ ophthalmopathy (GO) was diagnosed on the basis of the clinical and radiological features, and she underwent surgical recession of the inferior rectus muscle with complete resolution of the diplopia and orbital pain. She remained euthyroid over the course of follow-up but ultimately developed overt clinical and biochemical hyperthyroidism, 24 months after the initial presentation. By this time, she had developed positive TRAb as well as thyroid peroxidase antibodies. She responded to treatment with thionamides and remains euthyroid. This case highlights the potential for negative thyroid-specific autoantibodies in the presentation of EGO and underscores the variable temporal relationship between the clinical expression of thyroid dysfunction and orbital disease in the natural evolution of Graves’ disease.

Learning points

  • Euthyroid Graves’ ophthalmopathy can present initially with negative thyroid-specific autoantibodies.

  • Patients with suggestive symptoms of ophthalmopathy should be carefully evaluated for GO with imaging studies even when thyroid function and autoantibodies are normal.

  • Patients with EGO can develop thyroid dysfunction within 4 years of follow-up underpinning the need for long-term follow-up and continued patient and physician vigilance in patients who have been treated for EGO.

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Motoyuki Igata Faculty of Life Sciences, Department of Metabolic Medicine, Kumamoto University, 1-1-1 Honjo, Chuo-ku, Kumamoto 860-8556, Japan

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Kaku Tsuruzoe Faculty of Life Sciences, Department of Metabolic Medicine, Kumamoto University, 1-1-1 Honjo, Chuo-ku, Kumamoto 860-8556, Japan

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Junji Kawashima Faculty of Life Sciences, Department of Metabolic Medicine, Kumamoto University, 1-1-1 Honjo, Chuo-ku, Kumamoto 860-8556, Japan

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Daisuke Kukidome Faculty of Life Sciences, Department of Metabolic Medicine, Kumamoto University, 1-1-1 Honjo, Chuo-ku, Kumamoto 860-8556, Japan

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Tatsuya Kondo Faculty of Life Sciences, Department of Metabolic Medicine, Kumamoto University, 1-1-1 Honjo, Chuo-ku, Kumamoto 860-8556, Japan

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Hiroyuki Motoshima Faculty of Life Sciences, Department of Metabolic Medicine, Kumamoto University, 1-1-1 Honjo, Chuo-ku, Kumamoto 860-8556, Japan

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Seiya Shimoda Faculty of Life Sciences, Department of Metabolic Medicine, Kumamoto University, 1-1-1 Honjo, Chuo-ku, Kumamoto 860-8556, Japan

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Noboru Furukawa Faculty of Life Sciences, Department of Metabolic Medicine, Kumamoto University, 1-1-1 Honjo, Chuo-ku, Kumamoto 860-8556, Japan

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Takeshi Nishikawa Faculty of Life Sciences, Department of Metabolic Medicine, Kumamoto University, 1-1-1 Honjo, Chuo-ku, Kumamoto 860-8556, Japan

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Nobuhiro Miyamura Faculty of Life Sciences, Department of Metabolic Medicine, Kumamoto University, 1-1-1 Honjo, Chuo-ku, Kumamoto 860-8556, Japan

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Eiichi Araki Faculty of Life Sciences, Department of Metabolic Medicine, Kumamoto University, 1-1-1 Honjo, Chuo-ku, Kumamoto 860-8556, Japan

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Summary

Resistance to thyroid hormone (RTH) is a syndrome of reduced tissue responsiveness to thyroid hormones. RTH is majorly caused by mutations in the thyroid hormone receptor beta (THRB) gene. Recent studies indicated a close association of THRB mutations with human cancers, but the role of THRB mutation in carcinogenesis is still unclear. Here, we report a rare case of RTH with a papillary thyroid carcinoma (PTC). A 26-year-old woman was referred to our hospital due to a thyroid tumor and hormonal abnormality. She had elevated serum thyroid hormones and non-suppressed TSH levels. Genetic analysis of THRB identified a missense mutation, P452L, leading to a diagnosis of RTH. Ultrasound-guided fine-needle aspiration biopsy of the tumor and lymph nodes enabled the cytological diagnosis of PTC with lymph node metastases. Total thyroidectomy and neck lymph nodes dissection were performed. Following surgery, thyroxine replacement (≥500 μg) was necessary to avoid the symptoms of hypothyroidism and to maintain her TSH levels within the same range as before the operation. During the follow-up, basal thyroglobulin (Tg) levels were around 6 ng/ml and TSH-stimulated Tg levels were between 12 and 20 ng/ml. Up to present, the patient has had no recurrence of PTC. This indicates that these Tg values are consistent with a biochemical incomplete response or an indeterminate response. There is no consensus regarding the management of thyroid carcinoma in patients with RTH, but aggressive treatments such as total thyroidectomy followed by radioiodine (RAI) and TSH suppression therapy are recommended.

Learning points

  • There are only a few cases reporting the coexistence of RTH and thyroid carcinoma. Moreover, our case would be the first case presenting one with lymph node metastases.

  • Recent studies indicated a close association of THRB mutations with human cancers, but the role of THRB mutation in carcinogenesis is still unclear.

  • When total thyroidectomy is performed in patients with RTH, a large amount of thyroxine is needed to maintain their thyroid function.

  • There is no consensus regarding the management of thyroid carcinoma in patient with RTH, but effective treatments such as total thyroidectomy followed by RAI and TSH suppression therapy are recommended.

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Yael R Nobel Department of Medicine, Columbia University Medical Center, New York, New York, 10032, USA

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Maya B Lodish Section on Endocrinology and Genetics, Program on Developmental Endocrinology and Genetics, Eunice Kennedy Shriver National Institute of Child Health and Human Development, National Institutes of Health, Bethesda, BG 10-CRC, Room 1-3216, 10 Center Drive, Bethesda, Maryland, 20814, USA

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Margarita Raygada Section on Endocrinology and Genetics, Program on Developmental Endocrinology and Genetics, Eunice Kennedy Shriver National Institute of Child Health and Human Development, National Institutes of Health, Bethesda, BG 10-CRC, Room 1-3216, 10 Center Drive, Bethesda, Maryland, 20814, USA

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Jaydira Del Rivero Medical Oncology Branch, National Cancer Institute, National Institutes of Health, 10 Center Drive, Building 10, Room 12N-226, Bethesda, Maryland, 20892, USA

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Fabio R Faucz Section on Endocrinology and Genetics, Program on Developmental Endocrinology and Genetics, Eunice Kennedy Shriver National Institute of Child Health and Human Development, National Institutes of Health, Bethesda, BG 10-CRC, Room 1-3216, 10 Center Drive, Bethesda, Maryland, 20814, USA

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Smita B Abraham Section on Endocrinology and Genetics, Program on Developmental Endocrinology and Genetics, Eunice Kennedy Shriver National Institute of Child Health and Human Development, National Institutes of Health, Bethesda, BG 10-CRC, Room 1-3216, 10 Center Drive, Bethesda, Maryland, 20814, USA

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Charalampos Lyssikatos Section on Endocrinology and Genetics, Program on Developmental Endocrinology and Genetics, Eunice Kennedy Shriver National Institute of Child Health and Human Development, National Institutes of Health, Bethesda, BG 10-CRC, Room 1-3216, 10 Center Drive, Bethesda, Maryland, 20814, USA

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Elena Belyavskaya Section on Endocrinology and Genetics, Program on Developmental Endocrinology and Genetics, Eunice Kennedy Shriver National Institute of Child Health and Human Development, National Institutes of Health, Bethesda, BG 10-CRC, Room 1-3216, 10 Center Drive, Bethesda, Maryland, 20814, USA

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Constantine A Stratakis Section on Endocrinology and Genetics, Program on Developmental Endocrinology and Genetics, Eunice Kennedy Shriver National Institute of Child Health and Human Development, National Institutes of Health, Bethesda, BG 10-CRC, Room 1-3216, 10 Center Drive, Bethesda, Maryland, 20814, USA

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Mihail Zilbermint Section on Endocrinology and Genetics, Program on Developmental Endocrinology and Genetics, Eunice Kennedy Shriver National Institute of Child Health and Human Development, National Institutes of Health, Bethesda, BG 10-CRC, Room 1-3216, 10 Center Drive, Bethesda, Maryland, 20814, USA
Johns Hopkins University School of Medicine, Division of Endocrinology, Diabetes, and Metabolism, Baltimore, Maryland, 21287, USA
Suburban Hospital, Bethesda, Maryland, 20814, USA

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Summary

Autosomal recessive pseudohypoaldosteronism type 1 (PHA1) is a rare disorder characterized by sodium wasting, failure to thrive, hyperkalemia, hypovolemia and metabolic acidosis. It is due to mutations in the amiloride-sensitive epithelial sodium channel (ENaC) and is characterized by diminished response to aldosterone. Patients may present with life-threatening hyperkalemia, which must be recognized and appropriately treated. A 32-year-old female was referred to the National Institutes of Health (NIH) for evaluation of hyperkalemia and muscle pain. Her condition started in the second week of life, when she was brought to an outside hospital lethargic and unresponsive. At that time, she was hypovolemic, hyperkalemic and acidotic, and was eventually treated with sodium bicarbonate and potassium chelation. At the time of the presentation to the NIH, her laboratory evaluation revealed serum potassium 5.1 mmol/l (reference range: 3.4–5.1 mmol/l), aldosterone 2800 ng/dl (reference range: ≤21 ng/dl) and plasma renin activity 90 ng/ml/h (reference range: 0.6–4.3 ng/ml per h). Diagnosis of PHA1 was suspected. Sequencing of the SCNN1B gene, which codes for ENaC, revealed that the patient is a compound heterozygote for two novel variants (c.1288delC and c.1466+1 G>A), confirming the suspected diagnosis of PHA1. In conclusion, we report a patient with novel variants of the SCNN1B gene causing PHA1 with persistent, symptomatic hyperkalemia.

Learning points

  • PHA1 is a rare genetic condition, causing functional abnormalities of the amiloride-sensitive ENaC.

  • PHA1 was caused by previously unreported SCNN1B gene mutations (c.1288delC and c.1466+1 G>A).

  • Early recognition of this condition and adherence to symptomatic therapy is important, as the electrolyte abnormalities found may lead to severe dehydration, cardiac arrhythmias and even death.

  • High doses of sodium polystyrene sulfonate, sodium chloride and sodium bicarbonate are required for symptomatic treatment.

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Nishant Raizada Department of Endocrinology and Metabolism, All India Institute of Medical Sciences, New Delhi, India

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S H Rahaman Department of Endocrinology and Metabolism, All India Institute of Medical Sciences, New Delhi, India

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D Kandasamy Department of Radiology, All India Institute of Medical Sciences, New Delhi, India

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V P Jyotsna Department of Endocrinology and Metabolism, All India Institute of Medical Sciences, New Delhi, India

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Summary

Insulin autoimmune syndrome (IAS) is a rare cause of hyperinsulinemic hypoglycaemia, which is known to occur in association with the use of sulfhydryl-containing drugs and autoimmune disorders. We describe a patient with hitherto an unreported association of IAS with ankylosing spondylitis. We have also performed and described a simplified method of polyethylene glycol (PEG) precipitation of an insulin bound antibody in the serum.

Learning points

  • IAS should be considered in differential diagnosis of endogenous hyperinsulinemic hypoglycaemia.

  • Ankylosing spondylitis can be associated with IAS apart from several other autoimmune diseases.

  • Very high serum insulin levels (100–10 000 μU/ml) are frequently seen in IAS.

  • When faced with very high serum insulin before suspecting insulinoma, it is advisable that PEG precipitation of serum be done to identify antibody bound insulin.

  • A clinical suspicion of IAS can avoid expensive imaging and unnecessary surgery in affected patients.

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Stephanie Teasdale
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Elham Reda Endocrinology, Gold Coast University Hospital, Southport, Queensland, Australia

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Summary

We present two cases of adrenal phaeochromocytoma in patients with a previous diagnosis of neurofibromatosis type 1 (NF1). One had an adrenergic phenotype. The other had a more noradrenergic phenotype. Both had large primary tumours, which increases the likelihood of malignancy. Both also had elevated plasma-free methoxytyramine, which has been linked with malignancy even in non-SDHB phaeochromocytomas.

Learning points

  • Phaeochromocytoma can have varied clinical presentations.

  • Methoxytyramine can be useful in the biochemical work-up of both SDHB-positive and SDHB-negative phaeochromocytoma.

  • The utility of methoxytyramine as a marker of malignancy in NF1-related phaeochromocytoma is unclear, and cases with elevated titres warrant longer follow-up.

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S Hussain Department of Endocrinology, St Bartholomew's Hospital, London, UK

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E Panteliou Department of Endocrinology, St Bartholomew's Hospital, London, UK

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D M Berney Department of Pathology, St Bartholomew's Hospital, London, UK

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R Carpenter Department of Surgery, St Bartholomew's Hospital, London, UK

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M Matson Department of Radiology, St Bartholomew's Hospital, London, UK

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A Sahdev Department of Radiology, St Bartholomew's Hospital, London, UK

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M Bell Department of Endocrinology, Galway University Hospital, Galway, UK

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E O'Sullivan Department of Endocrinology, Galway University Hospital, Galway, UK

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W M Drake Department of Endocrinology, St Bartholomew's Hospital, London, UK

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Summary

We describe a young male patient with longstanding hypertension, who was diagnosed with primary hyperaldosteronism and treated by an attempted retroperitoneoscopic total unilateral adrenalectomy for a left-sided presumed aldosterone-secreting adenoma. Imaging had shown an unremarkable focal adrenal lesion with normal contralateral adrenal morphology, and histology of the resected specimen showed no adverse features. Post-operatively, his blood pressure and serum aldosterone levels fell to the normal range, but 9 months later, his hypertension recurred, primary aldosteronism was again confirmed and he was referred to our centre. Repeat imaging demonstrated an irregular left-sided adrenal lesion with normal contralateral gland appearances. Adrenal venous sampling was performed, which supported unilateral (left-sided) aldosterone hypersecretion. Redo surgery via a laparoscopically assisted transperitoneal approach was performed and multiple nodules were noted extending into the retroperitoneum. It was thought unlikely that complete resection had been achieved. His blood pressure returned to normal post-operatively, although hypokalaemia persisted. Histological examination, from this second operation, showed features of an adrenocortical carcinoma (ACC; including increased mitoses and invasion of fat) that was assessed as malignant using the scoring systems of Weiss and Aubert. Biochemical hyperaldosteronism persisted post-operatively, and detailed urine steroid profiling showed no evidence of adrenal steroid precursors or other mineralocorticoid production. He received flank radiotherapy to the left adrenal bed and continues to receive adjunctive mitotane therapy for a diagnosis of a pure aldosterone-secreting ACC.

Learning points

  • Pure aldosterone-secreting ACCs are exceptionally uncommon, but should be considered in the differential diagnosis of patients presenting with primary aldosteronism.

  • Aldosterone-producing ACCs may not necessarily show typical radiological features consistent with malignancy.

  • Patients who undergo surgical treatment for primary aldosteronism should have follow-up measurements of blood pressure to monitor for disease recurrence, even if post-operative normotension is thought to indicate a surgical ‘cure’.

  • Owing to the rarity of such conditions, a greater understanding of their natural history is likely to come from wider cooperation with, and contribution to, large multi-centre outcomes databases.

Open access
Annika Sjoeholm Department of Women's and Children's Health, University of Otago, Dunedin School of Medicine, PO Box 56, Dunedin 9054, New Zealand

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Cassandra Li Department of Women's and Children's Health, University of Otago, Dunedin School of Medicine, PO Box 56, Dunedin 9054, New Zealand

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Chaey Leem Department of Women's and Children's Health, University of Otago, Dunedin School of Medicine, PO Box 56, Dunedin 9054, New Zealand

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Aiden Lee Department of Women's and Children's Health, University of Otago, Dunedin School of Medicine, PO Box 56, Dunedin 9054, New Zealand

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Maria P Stack Paediatric Nephrology, Starship Children's Hospital, Auckland, New Zealand

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Paul L Hofman Liggins Institute, University of Auckland, Auckland, New Zealand

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Benjamin J Wheeler Department of Women's and Children's Health, University of Otago, Dunedin School of Medicine, PO Box 56, Dunedin 9054, New Zealand
Paediatric Endocrinology, Southern District Health Board, Dunedin, New Zealand

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Summary

Phaeochromocytomas are a rare clinical entity, with dual hormone-secreting lesions particularly uncommon, seen in <1%. ACTH is the most common hormone co-produced, and is potentially lethal if not diagnosed. We present the case of a previously well 10-year-old boy, who presented acutely with a hypertensive crisis and was found to have a unilateral, non-syndromic phaeochromocytoma. Medical stabilization of his hypertension was challenging, and took 3 weeks to achieve, before proceeding to unilateral adrenalectomy. Post-operatively the child experienced severe fatigue and was subsequently confirmed to have adrenal insufficiency. He improved markedly with hydrocortisone replacement therapy, which is ongoing 6 months post-operatively. In retrospect this likely represents unrecognized, sub-clinical ACTH-dependent Cushing's syndrome secondary to an ACTH/or precursor dual-hormone secreting phaeochromocytoma. At follow-up, his hypertension had resolved, there was no biochemical evidence of recurrence of the phaeochromocytoma, and genetic analysis was indicative of a sporadic lesion.

Learning points

  • Dual hormone secreting phaeochromocytomas with ACTH/or a precursor may cause secondary adrenal insufficiency following surgical removal.

  • The concurrent features of Cushing's syndrome can be mild and easily overlooked presenting diagnostic and management pitfalls.

  • As concomitant syndromes of hormone excess are rare in phaeochromocytomas; the diagnosis requires a high index of suspicion.

  • Serial/diurnal cortisol levels, ACTH measurement +/− low dose dexamethasone suppression (when clinically stable, appropriate adrenergic blockade in place, and well supervised), can all be considered as needed.

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